"PreventionGenetics, part of Exact Sciences"[submitter] AND "ABCC2"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 298437	NM_000392.5(ABCC2):c.-24C>T	ABCC2	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign/Likely benign
Select item 3033126	NM_000392.5(ABCC2):c.3G>A (p.Met1Ile)	ABCC2 (M1I)	Single nucleotide variant (missense variant +1 more)	ABCC2-related disorder	GUncertain significance
Select item 597092	NM_000392.5(ABCC2):c.23C>T (p.Ser8Phe)	ABCC2 (S8F)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +2 more	GUncertain significance
Select item 877757	NM_000392.5(ABCC2):c.56C>T (p.Pro19Leu)	ABCC2, LOC108281165 (P19L)	Single nucleotide variant (missense variant)	ABCC2-related disorder +2 more	GUncertain significance
Select item 289985	NM_000392.5(ABCC2):c.150C>T (p.His50=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	ABCC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 502331	NM_000392.5(ABCC2):c.156T>A (p.Tyr52Ter)	ABCC2, LOC108281165 (Y52*)	Single nucleotide variant (nonsense)	ABCC2-related disorder +1 more	GPathogenic
Select item 595862	NM_000392.5(ABCC2):c.213C>T (p.Phe71=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2917353	NM_000392.5(ABCC2):c.225T>C (p.Leu75=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 596849	NM_000392.5(ABCC2):c.232C>T (p.Leu78=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3055209	NM_000392.5(ABCC2):c.338T>C (p.Leu113Pro)	ABCC2 (L113P)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 500775	NM_000392.5(ABCC2):c.339G>A (p.Leu113=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3048008	NM_000392.5(ABCC2):c.342T>G (p.Val114=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related disorder	GLikely benign
Select item 3029704	NM_000392.5(ABCC2):c.357C>T (p.Tyr119=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related disorder	GLikely benign
Select item 2372103	NM_000392.5(ABCC2):c.454C>T (p.Arg152Trp)	ABCC2 (R152W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3056742	NM_000392.5(ABCC2):c.455G>A (p.Arg152Gln)	ABCC2 (R152Q)	Single nucleotide variant (missense variant)	ABCC2-related disorder +1 more	GUncertain significance
Select item 291147	NM_000392.5(ABCC2):c.469-9T>C	ABCC2	Single nucleotide variant (intron variant)	ABCC2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3061527	NM_000392.5(ABCC2):c.469-3T>C	ABCC2	Single nucleotide variant (intron variant)	ABCC2-related disorder	GLikely benign
Select item 596836	NM_000392.5(ABCC2):c.517G>A (p.Gly173Arg)	ABCC2 (G173R)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +2 more	GUncertain significance
Select item 3033525	NM_000392.5(ABCC2):c.633-1G>A	ABCC2	Single nucleotide variant (splice acceptor variant)	ABCC2-related disorder	GLikely pathogenic
Select item 291150	NM_000392.5(ABCC2):c.650A>C (p.Tyr217Ser)	ABCC2 (Y217S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1929970	NM_000392.5(ABCC2):c.655C>G (p.Arg219Gly)	ABCC2 (R219G)	Single nucleotide variant (missense variant)	ABCC2-related disorder +2 more	GUncertain significance
Select item 595317	NM_000392.5(ABCC2):c.655C>T (p.Arg219Cys)	ABCC2 (R219C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2797150	NM_000392.5(ABCC2):c.672G>A (p.Glu224=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related disorder +1 more	GLikely benign
Select item 289976	NM_000392.5(ABCC2):c.718A>G (p.Ser240Gly)	ABCC2 (S240G)	Single nucleotide variant (missense variant)	ABCC2-related disorder +2 more	GUncertain significance
Select item 500162	NM_000392.5(ABCC2):c.736A>C (p.Met246Leu)	ABCC2 (M246L)	Single nucleotide variant (missense variant)	ABCC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2634999	NM_000392.5(ABCC2):c.779G>A (p.Arg260Gln)	ABCC2 (R260Q)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 594627	NM_000392.5(ABCC2):c.855T>C (p.Asp285=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2883538	NM_000392.5(ABCC2):c.900G>T (p.Gly300=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 290905	NM_000392.5(ABCC2):c.974C>G (p.Ser325Ter)	ABCC2 (S325*)	Single nucleotide variant (nonsense)	ABCC2-related disorder +1 more	GPathogenic
Select item 499389	NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly)	ABCC2 (D333G)	Single nucleotide variant (missense variant)	ABCC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 879377	NM_000392.5(ABCC2):c.1031+4A>G	ABCC2	Single nucleotide variant (intron variant)	ABCC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 290082	NM_000392.5(ABCC2):c.1032-3C>T	ABCC2	Single nucleotide variant (intron variant)	ABCC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 298446	NM_000392.5(ABCC2):c.1058G>A (p.Arg353His)	ABCC2 (R353H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 255992	NM_000392.5(ABCC2):c.1249G>A (p.Val417Ile)	ABCC2 (V417I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 594058	NM_000392.5(ABCC2):c.1261G>A (p.Val421Met)	ABCC2 (V421M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2062339	NM_000392.5(ABCC2):c.1434G>T (p.Ala478=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 598397	NM_000392.5(ABCC2):c.1434G>A (p.Ala478=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 255993	NM_000392.5(ABCC2):c.1446C>G (p.Thr482=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 502064	NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile)	ABCC2 (T486I)	Single nucleotide variant (missense variant)	ABCC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 193811	NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu)	ABCC2 (K495E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2904072	NM_000392.5(ABCC2):c.1531-2A>G	ABCC2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2634457	NM_000392.5(ABCC2):c.1644C>A (p.Phe548Leu)	ABCC2 (F548L)	Single nucleotide variant (missense variant)	ABCC2-related disorder +2 more	GUncertain significance
Select item 877964	NM_000392.5(ABCC2):c.1658C>T (p.Thr553Ile)	ABCC2 (T553I)	Single nucleotide variant (missense variant)	ABCC2-related disorder +2 more	GUncertain significance
Select item 2976780	NM_000392.5(ABCC2):c.1845G>A (p.Lys615=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 298454	NM_000392.5(ABCC2):c.1860T>A (p.Asp620Glu)	ABCC2 (D620E)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +3 more	GUncertain significance
Select item 2986570	NM_000392.5(ABCC2):c.1875T>C (p.Ser625=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2636143	NM_000392.5(ABCC2):c.1900+5A>G	ABCC2	Single nucleotide variant (intron variant)	ABCC2-related disorder	GUncertain significance
Select item 499074	NM_000392.5(ABCC2):c.1950G>A (p.Ser650=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 194471	NM_000392.5(ABCC2):c.1967+1G>A	ABCC2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2906308	NM_000392.5(ABCC2):c.1967+9C>T	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 282328	NM_000392.5(ABCC2):c.2073C>A (p.Val691=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2635051	NM_000392.5(ABCC2):c.2153del (p.Asn718fs)	ABCC2 (N718fs)	Deletion (frameshift variant)	ABCC2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2631878	NM_000392.5(ABCC2):c.2209T>C (p.Cys737Arg)	ABCC2 (C737R)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 593171	NM_000392.5(ABCC2):c.2260del (p.Ile754fs)	ABCC2 (I754fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 595166	NM_000392.5(ABCC2):c.2306T>C (p.Ile769Thr)	ABCC2 (I769T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 879428	NM_000392.5(ABCC2):c.2366C>T (p.Ser789Phe)	ABCC2 (S789F)	Single nucleotide variant (missense variant)	ABCC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2636110	NM_000392.5(ABCC2):c.2380C>T (p.His794Tyr)	ABCC2 (H794Y)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3030849	NM_000392.5(ABCC2):c.2414del (p.Gly805fs)	ABCC2 (G805fs)	Deletion (frameshift variant)	ABCC2-related disorder	GPathogenic
Select item 288810	NM_000392.5(ABCC2):c.2461A>G (p.Ser821Gly)	ABCC2 (S821G)	Single nucleotide variant (missense variant)	ABCC2-related disorder +2 more	GUncertain significance
Select item 2636610	NM_000392.5(ABCC2):c.2471T>C (p.Phe824Ser)	ABCC2 (F824S)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 289984	NM_000392.5(ABCC2):c.2499T>C (p.Val833=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 502277	NM_000392.5(ABCC2):c.2504G>A (p.Gly835Glu)	ABCC2 (G835E)	Single nucleotide variant (missense variant)	ABCC2-related disorder +1 more	GUncertain significance
Select item 3010035	NM_000392.5(ABCC2):c.2550C>G (p.Ala850=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2964884	NM_000392.5(ABCC2):c.2620+3A>G	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 291051	NM_000392.5(ABCC2):c.2620+10_2620+12del	ABCC2	Microsatellite (intron variant)	ABCC2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3061583	NM_000392.5(ABCC2):c.2625T>C (p.His875=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	ABCC2-related disorder	GLikely benign
Select item 3051603	NM_000392.5(ABCC2):c.2637A>G (p.Glu879=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	ABCC2-related disorder	GLikely benign
Select item 3012617	NM_000392.5(ABCC2):c.2640A>G (p.Glu880=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2893275	NM_000392.5(ABCC2):c.2649T>C (p.Asp883=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 501698	NM_000392.5(ABCC2):c.2732G>A (p.Arg911Gln)	LOC126861012, ABCC2 (R911Q)	Single nucleotide variant (missense variant)	ABCC2-related disorder +1 more	GUncertain significance
Select item 282329	NM_000392.5(ABCC2):c.2743C>T (p.Arg915Cys)	LOC126861012, ABCC2 (R915C)	Single nucleotide variant (missense variant)	ABCC2-related disorder +3 more	GLikely benign
Select item 298459	NM_000392.5(ABCC2):c.2747+5G>A	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	Dubin-Johnson syndrome +2 more	GBenign/Likely benign
Select item 3054632	NM_000392.5(ABCC2):c.2791T>C (p.Leu931=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	ABCC2-related disorder	GLikely benign
Select item 282331	NM_000392.5(ABCC2):c.2813G>A (p.Ser938Asn)	ABCC2, LOC126861012 (S938N)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 195649	NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter)	ABCC2 (Y967*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 282330	NM_000392.5(ABCC2):c.2944A>G (p.Ile982Val)	ABCC2 (I982V)	Single nucleotide variant (missense variant)	ABCC2-related disorder +3 more	GLikely benign
Select item 498612	NM_000392.5(ABCC2):c.2955G>A (p.Ala985=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 592313	NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His)	ABCC2 (Q1019H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 498604	NM_000392.5(ABCC2):c.3082G>A (p.Gly1028Arg)	ABCC2 (G1028R)	Single nucleotide variant (missense variant)	ABCC2-related disorder +1 more	GUncertain significance
Select item 3029169	NM_000392.5(ABCC2):c.3103+8T>A	ABCC2	Single nucleotide variant (intron variant)	ABCC2-related disorder	GLikely benign
Select item 738115	NM_000392.5(ABCC2):c.3147C>T (p.Phe1049=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 282327	NM_000392.5(ABCC2):c.3188A>G (p.Asn1063Ser)	ABCC2 (N1063S)	Single nucleotide variant (missense variant)	ABCC2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 31603	NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter)	ABCC2 (R1066*)	Single nucleotide variant (nonsense)	ABCC2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 298464	NM_000392.5(ABCC2):c.3357C>T (p.Ala1119=)	ABCC2, LOC126861013	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1066295	NM_000392.5(ABCC2):c.3414+1G>A	ABCC2, LOC126861013	Single nucleotide variant (splice donor variant)	ABCC2-related disorder +1 more	GLikely pathogenic
Select item 8419	NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His)	ABCC2 (R1150H)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2917689	NM_000392.5(ABCC2):c.3465C>A (p.Thr1155=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 298465	NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 500973	NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2966598	NM_000392.5(ABCC2):c.3540G>A (p.Gln1180=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 195851	NM_000392.5(ABCC2):c.3542G>T (p.Arg1181Leu)	ABCC2 (R1181L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 499122	NM_000392.5(ABCC2):c.3561G>A (p.Glu1187=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 298467	NM_000392.5(ABCC2):c.3563T>A (p.Val1188Glu)	ABCC2 (V1188E)	Single nucleotide variant (missense variant)	ABCC2-related disorder +2 more	GBenign/Likely benign
Select item 282550	NM_000392.5(ABCC2):c.3614+6G>C	ABCC2	Single nucleotide variant (intron variant)	ABCC2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2998686	NM_000392.5(ABCC2):c.3615-4A>G	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3060252	NM_000392.5(ABCC2):c.3615-2A>T	ABCC2	Single nucleotide variant (splice acceptor variant)	ABCC2-related disorder	GPathogenic
Select item 2789331	NM_000392.5(ABCC2):c.3648C>T (p.Asn1216=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2967665	NM_000392.5(ABCC2):c.3687_3690del (p.Ile1228_Tyr1229insTer)	ABCC2	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 208557	NM_000392.5(ABCC2):c.3741+1G>A	ABCC2	Single nucleotide variant (splice donor variant)	ABCC2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 196102	NM_000392.5(ABCC2):c.3872C>T (p.Pro1291Leu)	ABCC2 (P1291L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign

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